Resultados da pesquisa - Matthias Begemann

  • A mostrar 1 - 18 resultados de 18
Refinar resultados
  1. 1
    Silver-Russell syndrome: genetic basis and molecular genetic testing

    Silver-Russell syndrome: genetic basis and molecular genetic testing Por Thomas Eggermann, Matthias Begemann, Gerhard Binder, Sabrina Spengler

    Publicado em 2010
    Obter o texto integral Obter o texto integral
    Revisão
    Adic. favoritos
    Na minha lista:
  2. 2
    Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

    Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences Por Miriam Elbracht, Deborah Mackay, Matthias Begemann, Karl Oliver Kagan, Thomas Eggermann

    Publicado em 2020
    Obter o texto integral Obter o texto integral
    Revisão
    Adic. favoritos
    Na minha lista:
  3. 3
    Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

    Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring Por Lukas Soellner, Matthias Begemann, Franziska Degenhardt, Annegret Geipel, Thomas Eggermann, Elisabeth Mangold

    Publicado em 2017
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  4. 4
    Identification of transcription factor binding sites using ATAC-seq

    Identification of transcription factor binding sites using ATAC-seq Por Zhijian Li, Marcel H. Schulz, Thomas Look, Matthias Begemann, Martin Zenke, Ivan G. Costa

    Publicado em 2019
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  5. 5
    Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

    Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature Por Matthias Begemann, Sabrina Spengler, Magdalena Gogiel, Ute Grasshoff, Michael Bonin, Regina C. Betz, Andreas Dufke, Isabel Spier, Thomas Eggermann

    Publicado em 2012
    Obter o texto integral Obter o texto integral
    Revisão
    Adic. favoritos
    Na minha lista:
  6. 6
    Paternally Inherited<i>IGF2</i>Mutation and Growth Restriction

    Paternally Inherited<i>IGF2</i>Mutation and Growth Restriction Por Matthias Begemann, Birgit Zirn, Gijs W.E. Santen, Elisa Wirthgen, Lukas Soellner, Hans-Martin Büttel, Roland Schweizer, Wilbert van Workum, Gerhard Binder, Thomas Eggermann

    Publicado em 2015
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  7. 7
    Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

    Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32 Por Jasmin Beygo, Miriam Elbracht, Karel de Groot, Matthias Begemann, Deniz Kanber, Konrad Platzer, Gabriele Gillessen‐Kaesbach, Anne Vierzig, Andrew Green, Raoul Heller, Karin Buiting, Thomas Eggermann

    Publicado em 2014
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  8. 8
    Recent Advances in Imprinting Disorders

    Recent Advances in Imprinting Disorders Por Lukas Soellner, Matthias Begemann, Deborah Mackay, Karen Grønskov, Zeynep Tümer, Eamonn R. Maher, I. Karen Temple, David Monk, Andrea Riccio, Agnès Linglart, Irène Netchine, Thomas Eggermann

    Publicado em 2016
    Obter o texto integral
    Revisão
    Adic. favoritos
    Na minha lista:
  9. 9
    DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

    DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans Por Gergely Karsai, Florian Kraft, Natja Haag, GC Korenke, Benjamin Hänisch, Alaa Othman, Saranya Suriyanarayanan, R. Steiner, Cordula Knopp, Michael Mull, Markus Bergmann, J. M. Schröder, Joachim Weis, Miriam Elbracht, Matthias Begemann, Thorsten Hornemann, Ingo Kurth

    Publicado em 2019
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  10. 10
    Comparison of flow‐FISH and MM–qPCR telomere length assessment techniques for the screening of telomeropathies

    Comparison of flow‐FISH and MM–qPCR telomere length assessment techniques for the screening of telomeropathies Por Mónica S. Ventura Ferreira, Martin Kirschner, Insa Halfmeyer, Natàlia Estrada, Blanca Xicoy, Susanne Isfort, Margherita Vieri, Lurdes Zamora, Anne Abels, Anne‐Sophie Bouillon, Matthias Begemann, Mirle Schemionek, Angela Maurer, Steffen Koschmieder, Stefan Wilop, Jens Panse, Tim H. Brümmendorf, Fabian Beier

    Publicado em 2019
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  11. 11
    DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift

    DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift Por Julia Franzen, Theodoros Georgomanolis, Anton Selich, Chao‐Chung Kuo, Reinhard Stöger, Lilija Brant, Melita Sara Mulabdić, Eduardo Fernández‐Rebollo, Clara Grezella, Alina Ostrowska, Matthias Begemann, Miloš Nikolić, Björn Rath, Anthony D. Ho, Michael Rothe, Axel Schambach, Argyris Papantonis, Wolfgang Wagner

    Publicado em 2021
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  12. 12
    Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

    Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences Por Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, Pierpaola Tannorella, Luciano Calzari, Guiomar Pérez de Nanclares, Paola Lombardi, I. Karen Temple, Deborah Mackay, Andrea Riccio, Masayo Kagami, Tsutomu Ogata, Pablo Lapunzina, David Monk, Eamonn R. Maher, Zeynep Tümer

    Publicado em 2022
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  13. 13
    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans Por Louise E Docherty, Faisal I. Rezwan, Rebecca Poole, Claire Turner, Emma Kivuva, Eamonn R. Maher, Sarah Smithson, Julian Hamilton‐Shield, Michał Patalan, Maria Giżewska, Jarosław Peregud‐Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma L. Baple, Sahar Mansour, I. Karen Temple, Deborah Mackay

    Publicado em 2015
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  14. 14
    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome Por Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth M. Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun E. Moore, Thalia Antoniadi, Fiona MacDonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R. Maher, Marcel M.A.M. Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah Mackay, Thomas Eggermann

    Publicado em 2016
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  15. 15
    Germline <i>GPR161</i> Mutations Predispose to Pediatric Medulloblastoma

    Germline <i>GPR161</i> Mutations Predispose to Pediatric Medulloblastoma Por Matthias Begemann, Sebastian M. Waszak, Giles Robinson, Natalie Jäger, Tanvi Sharma, Cordula Knopp, Florian Kraft, Olga Moser, Martin Mynarek, Léa Guerrini‐Rousseau, Laurence Brugières, Pascale Varlet, Torsten Pietsch, Daniel C. Bowers, Murali Chintagumpala, Felix Sahm, Jan O. Korbel, Stefan Rutkowski, Thomas Eggermann, Amar Gajjar, Paul A. Northcott, Miriam Elbracht, Stefan M. Pfister, Udo Kontny, Ingo Kurth

    Publicado em 2019
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  16. 16
    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling Por Thomas Eggermann, Frédéric Brioude, Silvia Russo, Maria Lombardi, Jet Bliek, Eamonn R. Maher, Lidia Larizza, Dirk Prawitt, Irène Netchine, Marie Gonzalès, Karen Grønskov, Zeynep Tümer, David Monk, M. Mannens, Krystyńa Chrzańowska, Malgorzata Krajewska Walasek, Matthias Begemann, Lukas Soellner, Katja Eggermann, Jair Tenorio, Julián Nevado, Gudrun E. Moore, Deborah Mackay, I. Karen Temple, Gabriele Gillessen‐Kaesbach, Tsutomu Ogata, Rosanna Weksberg, Elizabeth M. Algar, Pablo Lapunzina

    Publicado em 2015
    Obter o texto integral
    Revisão
    Adic. favoritos
    Na minha lista:
  17. 17
    Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

    Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring Por Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl‐Jaschkowitz, Claire Turner, Michał Patalan, Maria Giżewska, Gerhard Binder, Cấn Thị Bích Ngọc, Vũ Chí Dũng, Sarju Mehta, Gareth Baynam, Julian Hamilton‐Shield, Sara Aljareh, Oluwakemi Lokulo‐Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I. Karen Temple, Thomas Eggermann, Deborah Mackay

    Publicado em 2018
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  18. 18
    Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

    Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Por Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, Jana Šoukalová, Matilde Laurá, Alexander M. Rossor, Radim Mazanec, Jonas Van Lent, Pedro José Tomaselli, Martin Ungelenk, Karlien Debus, Shawna Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra‐Ramírez, M Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello‐Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji Madona Devassikutty, Sheela Nampoothiri, Maria Juliana R. Doriqui, Wolfgang Müller‐Felber, Katharina Vill, Tobias B. Haack, Andreas Dufke, Michael Abele, Rolf Stucka, Saima Siddiqi, Noor Ullah, Stephanie Spranger, Deborah Chiabrando, Behiye Bolgül, Yeşim Parman, Pavel Seeman, Angelika Lampert, Jörg B. Schulz, John N. Wood, James J. Cox, Michaela Auer‐Grumbach, Vincent Timmerman, Jonathan De Winter, Andreas C. Themistocleous, Michael E. Shy, David Bennett, Jonathan Baets, Christian A. Hübner, Enrico Leipold, Stephan Züchner, Miriam Elbracht, Arman Çakar, Jan Senderek, Thorsten Hornemann, C. Geoffrey Woods, Mary M. Reilly, Ingo Kurth

    Publicado em 2023
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:

Ferramentas de pesquisa: